A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759132



Internal ID9981277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20224095..20499136hg38UCSC Ensembl
Innerchr3:20265587..20540628hg19UCSC Ensembl
Innerchr3:20240591..20515632hg18UCSC Ensembl
Innerchr3:20240591..20515632hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38275042
hg19275042
hg18275042
hg17275042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757860
SamplesNA19204, NA19202, NA12864, NA19144, NA19093, NA18506, NA19153
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759132
Frequency
Sample Size270
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer